c.451+3A>T
c.451+3A>T · SaudiVarKB evidence summary derived from retained literature mentions.
1Variant mentions
1Publications
1Associated gene records
3Associated phenotype records
Associated gene records
Co-mentioned in the same publications| Gene | Identifier / context | Articles | Mentions |
|---|---|---|---|
| NPHS2 | HGNC:13394 | 1 | 1 |
Associated phenotype records
Co-mentioned in the same publications| Phenotype | Identifier / context | Articles | Mentions |
|---|---|---|---|
| familial hypercholesterolemia | HP:0003124 · 143890 | 1 | 1 |
| renal failure | — | 1 | 1 |
| nephrotic syndrome | — | 1 | 1 |
Associated population records
Co-mentioned in the same publicationsNo retained population associations.
Supporting publications
1 records- 2014mRNA sequencing of a novel NPHS2 intronic mutation in a child with focal and segmental glomerulosclerosis.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi ArabiaPubMed ↗